Incidental Mutation 'R8100:Ckmt1'
| ID |
630437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ckmt1
|
| Ensembl Gene |
ENSMUSG00000000308 |
| Gene Name |
creatine kinase, mitochondrial 1, ubiquitous |
| Synonyms |
Mt-CK, mi-CK, UbCKmit |
| MMRRC Submission |
067532-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R8100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121191258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 223
(D223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000125221]
[ENSMUST00000125812]
[ENSMUST00000126130]
[ENSMUST00000128612]
[ENSMUST00000129130]
[ENSMUST00000150271]
|
| AlphaFold |
P30275 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000317
AA Change: D223E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: D223E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
58 |
133 |
5.8e-34 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
401 |
4.5e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038389
|
| SMART Domains |
Protein: ENSMUSP00000039378
Gene: ENSMUSG00000033498
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
635 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1194 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1302 |
N/A |
INTRINSIC |
|
low complexity region
|
1560 |
1580 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078222
AA Change: D223E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: D223E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
55 |
134 |
1.2e-37 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
401 |
2e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125221
|
| SMART Domains |
Protein: ENSMUSP00000121930
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
55 |
117 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125812
|
| SMART Domains |
Protein: ENSMUSP00000115501
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
55 |
134 |
9.7e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126130
|
| SMART Domains |
Protein: ENSMUSP00000117463
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128612
|
| SMART Domains |
Protein: ENSMUSP00000115610
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129130
|
| SMART Domains |
Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
86 |
165 |
5.7e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150271
AA Change: D223E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308
AA Change: D223E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
|
Pfam:ATP-gua_PtransN
|
55 |
134 |
3.3e-38 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
251 |
3.8e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
G |
A |
14: 56,009,722 (GRCm39) |
Q777* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,405 (GRCm39) |
S199P |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,838,808 (GRCm39) |
M110K |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,978,101 (GRCm39) |
R379Q |
unknown |
Het |
| Cdk7 |
T |
C |
13: 100,842,925 (GRCm39) |
I272V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,148 (GRCm39) |
D192G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,903,844 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,755,839 (GRCm39) |
R2195H |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,287 (GRCm39) |
R563H |
probably benign |
Het |
| Defa29 |
A |
T |
8: 21,816,990 (GRCm39) |
M1K |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,930,368 (GRCm39) |
S3326P |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,028 (GRCm39) |
D431G |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,169,357 (GRCm39) |
F699I |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,685 (GRCm39) |
S1004P |
unknown |
Het |
| Gpr15 |
T |
A |
16: 58,538,076 (GRCm39) |
T338S |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,483,171 (GRCm39) |
Y1002C |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,707,859 (GRCm39) |
M703I |
probably benign |
Het |
| Ifi213 |
A |
C |
1: 173,422,748 (GRCm39) |
L39R |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 26,917,113 (GRCm39) |
A2271S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,137,899 (GRCm39) |
Q867L |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,512 (GRCm39) |
S1427T |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,397 (GRCm39) |
V70A |
probably damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,257 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,408,016 (GRCm39) |
R3168H |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,240,802 (GRCm39) |
D260G |
possibly damaging |
Het |
| Nfam1 |
T |
C |
15: 82,900,730 (GRCm39) |
D44G |
probably damaging |
Het |
| Or4a47 |
G |
A |
2: 89,666,029 (GRCm39) |
Q87* |
probably null |
Het |
| Osbpl10 |
G |
A |
9: 114,996,322 (GRCm39) |
R128H |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,949,392 (GRCm39) |
V29L |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,229,511 (GRCm39) |
D113E |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,978,472 (GRCm39) |
F195L |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,648,881 (GRCm39) |
E925V |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,326,470 (GRCm39) |
F2714L |
possibly damaging |
Het |
| Rbm20 |
T |
G |
19: 53,839,744 (GRCm39) |
I911S |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,509 (GRCm39) |
V197A |
possibly damaging |
Het |
| Sel1l2 |
C |
G |
2: 140,117,329 (GRCm39) |
A181P |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,368 (GRCm39) |
E234G |
possibly damaging |
Het |
| Skint2 |
A |
C |
4: 112,483,197 (GRCm39) |
T201P |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,809,948 (GRCm39) |
R199H |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,712 (GRCm39) |
M65T |
probably benign |
Het |
| Tgif1 |
C |
A |
17: 71,153,544 (GRCm39) |
|
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,331,411 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,432 (GRCm39) |
R282G |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,540,155 (GRCm39) |
Y244* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,861 (GRCm39) |
Y2866C |
probably damaging |
Het |
| Trim7 |
A |
C |
11: 48,740,346 (GRCm39) |
I148L |
probably damaging |
Het |
| Triml1 |
T |
A |
8: 43,591,717 (GRCm39) |
M214L |
probably benign |
Het |
| Usp30 |
T |
G |
5: 114,249,245 (GRCm39) |
V183G |
probably damaging |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,012 (GRCm39) |
S205F |
probably damaging |
Het |
| Zbtb32 |
CTTG |
CTTGTTG |
7: 30,290,946 (GRCm39) |
|
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,602 (GRCm39) |
C398S |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,673,940 (GRCm39) |
D301E |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Ckmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Ckmt1
|
APN |
2 |
121,191,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01141:Ckmt1
|
APN |
2 |
121,193,474 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01403:Ckmt1
|
APN |
2 |
121,193,447 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01971:Ckmt1
|
APN |
2 |
121,194,064 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02037:Ckmt1
|
APN |
2 |
121,191,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Ckmt1
|
APN |
2 |
121,194,096 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03303:Ckmt1
|
APN |
2 |
121,190,486 (GRCm39) |
missense |
probably benign |
|
|
R0157:Ckmt1
|
UTSW |
2 |
121,193,522 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0331:Ckmt1
|
UTSW |
2 |
121,193,337 (GRCm39) |
splice site |
probably null |
|
|
R1590:Ckmt1
|
UTSW |
2 |
121,194,003 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1640:Ckmt1
|
UTSW |
2 |
121,190,198 (GRCm39) |
splice site |
probably null |
|
|
R1853:Ckmt1
|
UTSW |
2 |
121,191,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Ckmt1
|
UTSW |
2 |
121,191,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4788:Ckmt1
|
UTSW |
2 |
121,190,427 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5632:Ckmt1
|
UTSW |
2 |
121,191,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5633:Ckmt1
|
UTSW |
2 |
121,194,110 (GRCm39) |
unclassified |
probably benign |
|
|
R5960:Ckmt1
|
UTSW |
2 |
121,194,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Ckmt1
|
UTSW |
2 |
121,194,060 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6673:Ckmt1
|
UTSW |
2 |
121,190,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Ckmt1
|
UTSW |
2 |
121,189,374 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8359:Ckmt1
|
UTSW |
2 |
121,193,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Ckmt1
|
UTSW |
2 |
121,193,172 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8512:Ckmt1
|
UTSW |
2 |
121,191,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Ckmt1
|
UTSW |
2 |
121,191,302 (GRCm39) |
intron |
probably benign |
|
|
R9181:Ckmt1
|
UTSW |
2 |
121,189,870 (GRCm39) |
intron |
probably benign |
|
|
X0067:Ckmt1
|
UTSW |
2 |
121,191,448 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ckmt1
|
UTSW |
2 |
121,190,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGCCGAAGTATCAGGG -3'
(R):5'- GTGTGTTGGCTCCATACCAG -3'
Sequencing Primer
(F):5'- AGTATCAGGGGACTCAGTCTC -3'
(R):5'- AGCCATTCCTGCTGCAGTCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation